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dc.contributor.authorStevenson, David A.
dc.contributor.authorLewis, Tracey
dc.contributor.authorMetry, Denise
dc.contributor.authorFrieden, Ilona
dc.contributor.authorBlei, Francine
dc.contributor.authorKayserili, Hulya
dc.contributor.authorDrolet, Beth A.
dc.contributor.authorBayrak-Toydemir, Pinar
dc.contributor.authorMitchell, Sheri
dc.contributor.authorSiegel, Dawn H.
dc.contributor.authorShieh, Joseph T. C.
dc.contributor.authorGrimmer, J. Fredrik
dc.date.accessioned2021-03-05T09:08:18Z
dc.date.available2021-03-05T09:08:18Z
dc.date.issued2012
dc.identifier.citationMitchell S., Siegel D. H. , Shieh J. T. C. , Stevenson D. A. , Grimmer J. F. , Lewis T., Metry D., Frieden I., Blei F., Kayserili H., et al., "Candidate locus analysis for PHACE syndrome", AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ss.1363-1367, 2012
dc.identifier.issn1552-4825
dc.identifier.otherav_9c723afa-3c2e-4dd9-b141-2bc4872a242b
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/105124
dc.identifier.urihttps://doi.org/10.1002/ajmg.a.35341
dc.description.abstractPHACE syndrome (OMIM #606519) is a neurocutaneous syndrome of unknown etiology and pathogenesis. We report on an individual with PHACE syndrome with a complete deletion of SLC35B4 on 7q33. In order to further analyze this region, SLC35B4 was sequenced for 33 individuals with PHACE syndrome and one parental set. Common polymorphisms with a possible haplotype but no disease causing mutation were identified. Sixteen of 33 samples of the PHACE syndrome patients were also analyzed for copy number variations using high-resolution oligo-comparative genomic hybridization (CGH) microarray. A second individual in this cohort had a 26.5?kb deletion approximately 80?kb upstream of SLC35B4 with partial deletion of the AKR1B1 on 7q33. The deletions observed on 7q33 are not likely the singular cause of PHACE syndrome; however, it is possible that this region provides a genetic susceptibility to phenotypic expression with other confounding genetic or environmental factors. (c) 2012 Wiley Periodicals, Inc.
dc.language.isoeng
dc.subjectTemel Bilimler
dc.subjectGENETİK VE HAYAT
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.titleCandidate locus analysis for PHACE syndrome
dc.typeMakale
dc.relation.journalAMERICAN JOURNAL OF MEDICAL GENETICS PART A
dc.contributor.departmentUtah System of Higher Education , ,
dc.identifier.issue6
dc.identifier.startpage1363
dc.identifier.endpage1367
dc.contributor.firstauthorID204533


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